{{Rsnum
|rsid=122454123
|Chromosome=X
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SMC1A
|position=53409120
|Gene_s=SMC1A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=300040
|rsnum=122454123
|variant=0004
}}{{ClinVar
|rsid=122454123
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=53436051
|CHROM=X
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=SMC1A:8243
|GENE_NAME=SMC1A
|GENE_ID=8243
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.53436051C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=300040.0004
|CLNSIG=5
|CLNCUI=C1802395
|CLNDBN=Congenital muscular hypertrophy-cerebral syndrome
|Disease=Congenital muscular hypertrophy-cerebral syndrome
|CLNACC=RCV000012441.13
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1104:C1802395:300590:199:55016009
}}